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Study and Follow-up of Multiple Endocrine Neoplasia Type 1

Recruitingn/aAges any - anyAllCentre Hospitalier Universitaire Dijon
NCT03348501 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

Multiple Endocrine Neoplasia type I (MEN1) or Wermer syndrome is an autosomal dominant disease that predisposes patients to the development of endocrine tumours, principally parathyroid, pituitary or duodenal-pancreatic tumours. It is due to mutations that abolish the function of the MEN1 gene, which contributes to tumour regulation. It is a rare disease, with an estimated prevalence in the general population of 1/30,000. Penetrance of the disease is late but very high (almost 100% at 50 years of age). The first clinical manifestations usually appear after the age of 30 or 40 years. The three cardinal endocrine characteristics of MEN1 are secreting tumours of the parathyroid, the pituitary gland and the pancreas. Tumours of the adrenal glands, bronchial or thymic endocrine tumours, ependymoma and meningioma of the central nervous system, visceral leiomyomas, and certain cutaneous tumour

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📋 Eligibility rules (as published)
Inclusion Criteria: \- Symptomatic individuals with a confirmed diagnosis of MEN1 and who live in France. Patients with the following characteristics will also be included in the cohort: * At least two of the three cardinal clinical lesions (parathyroid, pancreas, pituitary), * OR an isolated known lesion of the disease, cardinal or not (parathyroid, pancreas, pituitary, adrenal, thymus, bronchus, tumour of the central nervous system) associated with a mutation of the MEN1 locus on chromosome 11q13, * OR an isolated lesion, cardinal or not (parathyroid, pancreas, pituitary, adrenal, thymus, bronchus, tumour of the central nervous system) in an individual with a confirmed family history of MEN1. asymptomatic patients who carry a characteristic mutation of MEN1. Current knowledge suggests that these patients will develop symptoms during their follow-up. Exclusion Criteria: patients who present a single-organ genetic endocrine disease associated with another genetic syndrome (familial isolated pituitary adenoma FIPA, familial isolated hyperparathyroidism FIHP)
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What it tests

  • survey for long-term follow-up of the disease
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Where

1 site
CHU Dijon Bourgogne
Dijon, France
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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